Abstract | BACKGROUND: METHODS AND RESULTS: This study involved 580 patients with hypertriglyceridemias and 403 controls. Of the 37 single nucleotide polymorphisms examined, 12 located in 10 genes showed allelic and genotype frequency differences between hypertriglyceridemias and controls. The minor alleles of APOE, APOA5, GALNTN2, and GCKR variants were positively correlated with plasma triglycerides, whereas minor alleles of ADIPOR2, ANGPTL3, LPL, and TRIB1 polymorphisms were inversely associated. Body mass index, glucose, sex, rs328 and rs7007797 in LPL, rs662799 and rs3135506 in APOA5, and rs1260326 in GCKR explained 36% of the variability in plasma triglycerides, 7.3% of which was attributable to the genetic variables. LPL, GCKR, and APOA5 polymorphisms fit dominant, recessive, and additive inheritance models, respectively. Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. The other 32 single nucleotide polymorphisms presented similar frequencies between isolated hypertriglyceridemias and FCHL. CONCLUSIONS:
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Authors | Isabel De Castro-Orós, Ana Cenarro, María Teresa Tejedor, Lucía Baila-Rueda, Rocío Mateo-Gallego, Itziar Lamiquiz-Moneo, Miguel Pocoví, Fernando Civeira |
Journal | Circulation. Cardiovascular genetics
(Circ Cardiovasc Genet)
Vol. 7
Issue 6
Pg. 814-21
(Dec 2014)
ISSN: 1942-3268 [Electronic] United States |
PMID | 25176936
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2014 American Heart Association, Inc. |
Chemical References |
- APOA5 protein, human
- Adaptor Proteins, Signal Transducing
- Apolipoprotein A-V
- Apolipoproteins A
- Blood Glucose
- GCKR protein, human
- Triglycerides
- LPL protein, human
- Lipoprotein Lipase
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Topics |
- Adaptor Proteins, Signal Transducing
(genetics)
- Adult
- Age Factors
- Alleles
- Apolipoprotein A-V
- Apolipoproteins A
(genetics)
- Blood Glucose
(analysis)
- Body Mass Index
- Female
- Gene Frequency
- Genetic Variation
- Genotype
- Humans
- Hyperlipidemia, Familial Combined
(genetics, pathology)
- Hypertriglyceridemia
(genetics, pathology)
- Lipoprotein Lipase
(genetics)
- Male
- Middle Aged
- Polymorphism, Single Nucleotide
- Sex Factors
- Triglycerides
(blood)
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